-
1
-
-
0033180516
-
Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity
-
Arber S, Han B, Mendelsohn M, Smith M, Jessell TM, Sockanathan S. Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity. Neuron 1999; 23: 659-74.
-
(1999)
Neuron
, vol.23
, pp. 659-674
-
-
Arber, S.1
Han, B.2
Mendelsohn, M.3
Smith, M.4
Jessell, T.M.5
Sockanathan, S.6
-
2
-
-
0038744272
-
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demye-linating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
-
Azzedine H, Bolino A, Taieb T, Birouk N, Di Duca M, Bouhouche A, et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demye-linating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet 2003; 72: 1141-53.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1141-1153
-
-
Azzedine, H.1
Bolino, A.2
Taieb, T.3
Birouk, N.4
Di Duca, M.5
Bouhouche, A.6
-
3
-
-
80052927465
-
Genetic spectrum of hereditary neuropathies with onset in the first year of life
-
Baets J, Deconinck T, De Vriendt E, Zimon M, Yperzeele L, Van Hoorenbeeck K, et al. Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain 2011; 134: 2664-76.
-
(2011)
Brain
, vol.134
, pp. 2664-2676
-
-
Baets, J.1
Deconinck, T.2
De Vriendt, E.3
Zimon, M.4
Yperzeele, L.5
Van Hoorenbeeck, K.6
-
4
-
-
34250693117
-
Essential and distinct roles for cdc42 and rac1 in the regulation of Schwann cell biology during peripheral nervous system development
-
Benninger Y, Thurnherr T, Pereira JA, Krause S, Wu X, Chrostek-Grashoff A, et al. Essential and distinct roles for cdc42 and rac1 in the regulation of Schwann cell biology during peripheral nervous system development. J Cell Biol 2007; 177: 1051-61.
-
(2007)
J Cell Biol
, vol.177
, pp. 1051-1061
-
-
Benninger, Y.1
Thurnherr, T.2
Pereira, J.A.3
Krause, S.4
Wu, X.5
Chrostek-Grashoff, A.6
-
5
-
-
0035121784
-
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
-
Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, et al. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 2001; 68: 325-33.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 325-333
-
-
Boerkoel, C.F.1
TakashiHernán, M.A.2
Stankiewicz, P.3
Garcia, C.A.4
Leber, S.M.5
Rhee-Morris, L.6
-
6
-
-
9444266440
-
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
-
Bolino A, Bolis A, Previtali SC, Dina G, Bussini S, Dati G, et al. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol 2004; 167: 711-21.
-
(2004)
J Cell Biol
, vol.167
, pp. 711-721
-
-
Bolino, A.1
Bolis, A.2
Previtali, S.C.3
Dina, G.4
Bussini, S.5
Dati, G.6
-
7
-
-
0034062698
-
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
-
Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 2000; 25: 17-19.
-
(2000)
Nat Genet
, vol.25
, pp. 17-19
-
-
Bolino, A.1
Muglia, M.2
Conforti, F.L.3
Leguern, E.4
Saporta, M.A.5
Georgiou, D.M.6
-
8
-
-
28744436993
-
An animal model for Charcot-Marie-Tooth disease type 4B1
-
Bonneick S, Boentert M, Berger P, Atanasoski S, Mantei N, Wessig C, et al. An animal model for Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet 2005; 14: 3685-95.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3685-3695
-
-
Bonneick, S.1
Boentert, M.2
Berger, P.3
Atanasoski, S.4
Mantei, N.5
Wessig, C.6
-
9
-
-
84855171766
-
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy
-
Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, et al. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. N Engl J Med 2011; 365: 2377-88.
-
(2011)
N Engl J Med
, vol.365
, pp. 2377-2388
-
-
Boyer, O.1
Nevo, F.2
Plaisier, E.3
Funalot, B.4
Gribouval, O.5
Benoit, G.6
-
10
-
-
77649091387
-
Axonal prion protein is required for peripheral myelin maintenance
-
Bremer J, Baumann F, Tiberi C, Wessig C, Fischer H, Schwarz P, et al. Axonal prion protein is required for peripheral myelin maintenance. Nat Neurosci 2010; 13: 310-18.
-
(2010)
Nat Neurosci
, vol.13
, pp. 310-318
-
-
Bremer, J.1
Baumann, F.2
Tiberi, C.3
Wessig, C.4
Fischer, H.5
Schwarz, P.6
-
11
-
-
77957916873
-
Cdc42 interaction with N-WASP and Toca-1 regulates membrane tubulation, vesicle formation and vesicle motility: Implications for endocytosis
-
Bu W, Lim KB, Yu YH, Chou AM, Sudhaharan T, Ahmed S. Cdc42 interaction with N-WASP and Toca-1 regulates membrane tubulation, vesicle formation and vesicle motility: implications for endocytosis. PLoS One 2010; 5: e12153.
-
(2010)
PLoS One
, vol.5
-
-
Bu, W.1
Lim, K.B.2
Yu, Y.H.3
Chou, A.M.4
Sudhaharan, T.5
Ahmed, S.6
-
12
-
-
67449087674
-
The myelin protein MAL affects peripheral nerve myelination: A new player influencing p75 neurotrophin receptor expression
-
Buser AM, Schmid D, Kern F, Erne B, Lazzati T, Schaeren-Wiemers N. The myelin protein MAL affects peripheral nerve myelination: a new player influencing p75 neurotrophin receptor expression. Eur J Neurosci 2009; 29: 2276-90.
-
(2009)
Eur J Neurosci
, vol.29
, pp. 2276-2290
-
-
Buser, A.M.1
Schmid, D.2
Kern, F.3
Erne, B.4
Lazzati, T.5
Schaeren-Wiemers, N.6
-
13
-
-
80051923453
-
Identification of a negative regulatory region for the exchange activity and characterization of T332I mutant of Rho guanine nucleotide exchange factor 10 (ARHGEF10)
-
Chaya T, Shibata S, Tokuhara Y, Yamaguchi W, Matsumoto H, Kawahara I, et al. Identification of a negative regulatory region for the exchange activity and characterization of T332I mutant of Rho guanine nucleotide exchange factor 10 (ARHGEF10). J Biol Chem 2011; 286: 29511-20.
-
(2011)
J Biol Chem
, vol.286
, pp. 29511-29520
-
-
Chaya, T.1
Shibata, S.2
Tokuhara, Y.3
Yamaguchi, W.4
Matsumoto, H.5
Kawahara, I.6
-
14
-
-
34447133038
-
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
-
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, et al. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 2007; 448: 68-72.
-
(2007)
Nature
, vol.448
, pp. 68-72
-
-
Chow, C.Y.1
Zhang, Y.2
Dowling, J.J.3
Jin, N.4
Adamska, M.5
Shiga, K.6
-
15
-
-
77953562076
-
Dlg1-pten interaction regulates myelin thickness to prevent damaging peripheral nerve overmyelination
-
Cotter L, Ozcelik M, Jacob C, Pereira JA, Locher V, Baumann R, et al. Dlg1-PTEN interaction regulates myelin thickness to prevent damaging peripheral nerve overmyelination. Science 2010; 328: 1415-18.
-
(2010)
Science
, vol.328
, pp. 1415-1418
-
-
Cotter, L.1
Ozcelik, M.2
Jacob, C.3
Pereira, J.A.4
Locher, V.5
Baumann, R.6
-
16
-
-
83255186746
-
The aarskog-scott syndrome protein fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor beta-stimulated aortic endothelial cells
-
Daubon T, Buccione R, Genot E. The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor beta-stimulated aortic endothelial cells. Mol Cell Biol 2011; 31: 4430-41.
-
(2011)
Mol Cell Biol
, vol.31
, pp. 4430-4441
-
-
Daubon, T.1
Buccione, R.2
Genot, E.3
-
17
-
-
20144377496
-
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
-
De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, et al. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. J Med Genet 2005; 42: 260-5.
-
(2005)
J Med Genet
, vol.42
, pp. 260-265
-
-
De Sandre-Giovannoli, A.1
Delague, V.2
Hamadouche, T.3
Chaouch, M.4
Krahn, M.5
Boccaccio, I.6
-
18
-
-
34347240987
-
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
-
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, et al. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet 2007; 81: 1-16.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1-16
-
-
Delague, V.1
Jacquier, A.2
Hamadouche, T.3
Poitelon, Y.4
Baudot, C.5
Boccaccio, I.6
-
20
-
-
65649085175
-
Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation
-
Egorov MV, Capestrano M, Vorontsova OA, Di Pentima A, Egorova AV, Mariggio S, et al. Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation. Mol Biol Cell 2009; 20: 2413-27.
-
(2009)
Mol Biol Cell
, vol.20
, pp. 2413-2427
-
-
Egorov, M.V.1
Capestrano, M.2
Vorontsova, O.A.3
Di Pentima, A.4
Egorova, A.V.5
Mariggio, S.6
-
21
-
-
0037069690
-
Rho GTPases in cell biology
-
Etienne-Manneville S, Hall A. Rho GTPases in cell biology. Nature 2002; 420: 629-35.
-
(2002)
Nature
, vol.420
, pp. 629-635
-
-
Etienne-Manneville, S.1
Hall, A.2
-
22
-
-
65249157015
-
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H
-
Fabrizi GM, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, et al. Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. Neurology 2009; 72: 1160-4.
-
(2009)
Neurology
, vol.72
, pp. 1160-1164
-
-
Fabrizi, G.M.1
Taioli, F.2
Cavallaro, T.3
Ferrari, S.4
Bertolasi, L.5
Casarotto, M.6
-
23
-
-
84856712027
-
A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients
-
Fledrich R, Schlotter-Weigel B, Schnizer TJ, Wichert SP, Stassart RM, zu Horste GM, et al. A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients. Brain 2012a; 135: 72-87.
-
(2012)
Brain
, vol.135
, pp. 72-87
-
-
Fledrich, R.1
Schlotter-Weigel, B.2
Schnizer, T.J.3
Wichert, S.P.4
Stassart, R.M.5
Zu Horste, G.M.6
-
24
-
-
84861812079
-
Murine therapeutic models for charcot-marie-tooth (CMT) disease
-
Fledrich R, Stassart RM, Sereda MW. Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease. Br Med Bull 2012b; 102: 89-113.
-
(2012)
Br Med Bull
, vol.102
, pp. 89-113
-
-
Fledrich, R.1
Stassart, R.M.2
Sereda, M.W.3
-
25
-
-
0345211489
-
Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice
-
Frei R, Motzing S, Kinkelin I, Schachner M, Koltzenburg M, Martini R. Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice. J Neurosci 1999; 19: 6058-67.
-
(1999)
J Neurosci
, vol.19
, pp. 6058-6067
-
-
Frei, R.1
Motzing, S.2
Kinkelin, I.3
Schachner, M.4
Koltzenburg, M.5
Martini, R.6
-
27
-
-
77954391902
-
Elevated phosphatidylinositol 3,4,5-trisphosphate in glia triggers cell-autonomous membrane wrapping and myelination
-
Goebbels S, Oltrogge JH, Kemper R, Heilmann I, Bormuth I, Wolfer S, et al. Elevated phosphatidylinositol 3,4,5-trisphosphate in glia triggers cell-autonomous membrane wrapping and myelination. J Neurosci 2010; 30: 8953-64.
-
(2010)
J Neurosci
, vol.30
, pp. 8953-8964
-
-
Goebbels, S.1
Oltrogge, J.H.2
Kemper, R.3
Heilmann, I.4
Bormuth, I.5
Wolfer, S.6
-
28
-
-
84861917238
-
Genetic disruption of pten in a novel mouse model of tomacu-lous neuropathy
-
Goebbels S, Oltrogge JH, Wolfer S, Wieser GL, Nientiedt T, Pieper A, et al. Genetic disruption of Pten in a novel mouse model of tomacu-lous neuropathy. EMBO Mol Med 2012; 4: 486-99.
-
(2012)
EMBO Mol Med
, vol.4
, pp. 486-499
-
-
Goebbels, S.1
Oltrogge, J.H.2
Wolfer, S.3
Wieser, G.L.4
Nientiedt, T.5
Pieper, A.6
-
29
-
-
41149122298
-
Novel insights into FGD3, a putative GEF for Cdc42, that undergoes SCF(FWD1/beta-TrCP)-mediated proteasomal degradation analogous to that of its homologue FGD1 but regulates cell morphology and motility differently from FGD1
-
Hayakawa M, Matsushima M, Hagiwara H, Oshima T, Fujino T, Ando K, et al. Novel insights into FGD3, a putative GEF for Cdc42, that undergoes SCF(FWD1/beta-TrCP)-mediated proteasomal degradation analogous to that of its homologue FGD1 but regulates cell morphology and motility differently from FGD1. Genes Cells 2008; 13: 329-42.
-
(2008)
Genes Cells
, vol.13
, pp. 329-342
-
-
Hayakawa, M.1
MatsushiMayka, M.A.2
Hagiwara, H.3
Oshima, T.4
Fujino, T.5
Ando, K.6
-
30
-
-
84861901908
-
Myotubularin phosphoinositide phosphatases: Cellular functions and disease pathophysiology
-
Hnia K, Vaccari I, Bolino A, Laporte J. Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology. Trends Mol Med 2012; 18: 317-27.
-
(2012)
Trends Mol Med
, vol.18
, pp. 317-327
-
-
Hnia, K.1
Vaccari, I.2
Bolino, A.3
Laporte, J.4
-
31
-
-
61849087866
-
A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H
-
Houlden H, Hammans S, Katifi H, Reilly MM. A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. Neurology 2009; 72: 617-20.
-
(2009)
Neurology
, vol.72
, pp. 617-620
-
-
Houlden, H.1
Hammans, S.2
Katifi, H.3
Reilly, M.M.4
-
32
-
-
57749116036
-
FGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane ruffles
-
Huber C, Martensson A, Bokoch GM, Nemazee D, Gavin AL. FGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane ruffles. J Biol Chem 2008; 283: 34002-12.
-
(2008)
J Biol Chem
, vol.283
, pp. 34002-34012
-
-
Huber, C.1
Martensson, A.2
Bokoch, G.M.3
Nemazee, D.4
Gavin, A.L.5
-
33
-
-
0038623319
-
The POU proteins Brn-2 and Oct-6 share important functions in Schwann cell development
-
Jaegle M, Ghazvini M, Mandemakers W, Piirsoo M, Driegen S, Levavasseur F, et al. The POU proteins Brn-2 and Oct-6 share important functions in Schwann cell development. Genes Dev 2003; 17: 1380-91.
-
(2003)
Genes Dev
, vol.17
, pp. 1380-1391
-
-
Jaegle, M.1
Ghazvini, M.2
Mandemakers, W.3
Piirsoo, M.4
Driegen, S.5
Levavasseur, F.6
-
34
-
-
27944479854
-
Rho GTPases: Biochemistry and biology
-
Jaffe AB, Hall A. Rho GTPases: biochemistry and biology. Annu Rev Cell Dev Biol 2005; 21: 247-69.
-
(2005)
Annu Rev Cell Dev Biol
, vol.21
, pp. 247-269
-
-
Jaffe, A.B.1
Hall, A.2
-
35
-
-
25144470229
-
The origin and development of glial cells in peripheral nerves
-
Jessen KR, Mirsky R. The origin and development of glial cells in peripheral nerves. Nat Rev Neurosci 2005; 6: 671-82.
-
(2005)
Nat Rev Neurosci
, vol.6
, pp. 671-682
-
-
Jessen, K.R.1
Mirsky, R.2
-
36
-
-
33745767358
-
Harnessing actin dynamics for clathrin-mediated endocytosis
-
Kaksonen M, Toret CP, Drubin DG. Harnessing actin dynamics for clathrin-mediated endocytosis. Nat Rev Mol Cell Biol 2006; 7: 404-14.
-
(2006)
Nat Rev Mol Cell Biol
, vol.7
, pp. 404-414
-
-
Kaksonen, M.1
Toret, C.P.2
Drubin, D.G.3
-
37
-
-
0033921060
-
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
-
Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000; 123: 1516-27.
-
(2000)
Brain
, vol.123
, pp. 1516-1527
-
-
Krajewski, K.M.1
Lewis, R.A.2
Fuerst, D.R.3
Turansky, C.4
Hinderer, S.R.5
Garbern, J.6
-
38
-
-
0037396606
-
Tamoxifen-inducible glia-specific Cre mice for somatic mutagenesis in oligodendrocytes and Schwann cells
-
Leone DP, Genoud S, Atanasoski S, Grausenburger R, Berger P, Metzger D, et al. Tamoxifen-inducible glia-specific Cre mice for somatic mutagenesis in oligodendrocytes and Schwann cells. Mol Cell Neurosci 2003; 22: 430-40.
-
(2003)
Mol Cell Neurosci
, vol.22
, pp. 430-440
-
-
Leone, D.P.1
Genoud, S.2
Atanasoski, S.3
Grausenburger, R.4
Berger, P.5
Metzger, D.6
-
39
-
-
70449356628
-
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
-
Lupo V, Galindo MI, Martinez-Rubio D, Sevilla T, Vilchez JJ, Palau F, et al. Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. Hum Mol Genet 2009; 18: 4603-14.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4603-4614
-
-
Lupo, V.1
Galindo, M.I.2
Martinez-Rubio, D.3
Sevilla, T.4
Vilchez, J.J.5
Palau, F.6
-
40
-
-
78650015297
-
Four novel cases of periaxin-related neuropathy and review of the literature
-
Marchesi C, Milani M, Morbin M, Cesani M, Lauria G, Scaioli V, et al. Four novel cases of periaxin-related neuropathy and review of the literature. Neurology 2010; 75: 1830-8.
-
(2010)
Neurology
, vol.75
, pp. 1830-1838
-
-
Marchesi, C.1
Milani, M.2
Morbin, M.3
Cesani, M.4
Lauria, G.5
Scaioli, V.6
-
41
-
-
0034254710
-
Animal models for inherited peripheral neuropathies: Chances to find treatment strategies?
-
Martini R. Animal models for inherited peripheral neuropathies: chances to find treatment strategies? J Neurosci Res 2000; 61: 244-50.
-
(2000)
J Neurosci Res
, vol.61
, pp. 244-250
-
-
Martini, R.1
-
42
-
-
78951491087
-
Signaling role of Cdc42 in regulating mammalian physiology
-
Melendez J, Grogg M, Zheng Y. Signaling role of Cdc42 in regulating mammalian physiology. J Biol Chem 2011; 286: 2375-81.
-
(2011)
J Biol Chem
, vol.286
, pp. 2375-2381
-
-
Melendez, J.1
Grogg, M.2
Zheng, Y.3
-
43
-
-
49549111424
-
Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane
-
Nakanishi H, Takai Y. Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane. J Cell Mol Med 2008; 12: 1169-76.
-
(2008)
J Cell Mol Med
, vol.12
, pp. 1169-1176
-
-
Nakanishi, H.1
Takai, Y.2
-
44
-
-
78149433845
-
Myelination and support of axonal integrity by glia
-
Nave KA. Myelination and support of axonal integrity by glia. Nature 2010; 468: 244-52.
-
(2010)
Nature
, vol.468
, pp. 244-252
-
-
Nave, K.A.1
-
45
-
-
34547631080
-
Mechanisms of disease: Inherited demyelinating neuropathies-from basic to clinical research
-
Nave KA, Sereda MW, Ehrenreich H. Mechanisms of disease: inherited demyelinating neuropathies-from basic to clinical research. Nat Clin Pract Neurol 2007; 3: 453-64.
-
(2007)
Nat Clin Pract Neurol
, vol.3
, pp. 453-464
-
-
Nave, K.A.1
Sereda, M.W.2
Ehrenreich, H.3
-
46
-
-
43249098296
-
Axon-glial signaling and the glial support of axon function
-
Nave KA, Trapp BD. Axon-glial signaling and the glial support of axon function. Annu Rev Neurosci 2008; 31: 535-61.
-
(2008)
Annu Rev Neurosci
, vol.31
, pp. 535-561
-
-
Nave, K.A.1
Trapp, B.D.2
-
47
-
-
33745250497
-
Intermediate forms of Charcot-Marie-Tooth neuropathy: A review
-
Nicholson G, Myers S. Intermediate forms of Charcot-Marie-Tooth neuropathy: a review. Neuromolecular Med 2006; 8: 123-30.
-
(2006)
Neuromolecular Med
, vol.8
, pp. 123-130
-
-
Nicholson, G.1
Myers, S.2
-
48
-
-
78951471142
-
Role of fgd1 a cdc42 guanine nucleotide exchange factor in epidermal growth factor-stimulated c-jun nh2-terminal kinase activation and cell migration
-
Oshima T, Fujino T, Ando K, Hayakawa M. Role of FGD1, a Cdc42 guanine nucleotide exchange factor, in epidermal growth factor-stimulated c-Jun NH2-terminal kinase activation and cell migration. Biol Pharm Bull 2011; 34: 54-60.
-
(2011)
Biol Pharm Bull
, vol.34
, pp. 54-60
-
-
Oshima, T.1
Fujino, T.2
Ando, K.3
Hayakawa, M.4
-
49
-
-
77949755601
-
Pals1 is a major regulator of the epithelial-like polarization and the extension of the myelin sheath in peripheral nerves
-
Ozcelik M, Cotter L, Jacob C, Pereira JA, Relvas JB, Suter U, et al. Pals1 is a major regulator of the epithelial-like polarization and the extension of the myelin sheath in peripheral nerves. J Neurosci 2010; 30: 4120-31.
-
(2010)
J Neurosci
, vol.30
, pp. 4120-4131
-
-
Ozcelik, M.1
Cotter, L.2
Jacob, C.3
Pereira, J.A.4
Relvas, J.B.5
Suter, U.6
-
50
-
-
0028126564
-
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor
-
Pasteris NG, Cadle A, Logie LJ, Porteous ME, Schwartz CE, Stevenson RE, et al. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 1994; 79: 669-78.
-
(1994)
Cell
, vol.79
, pp. 669-678
-
-
Pasteris, N.G.1
Cadle, A.2
Logie, L.J.3
Porteous, M.E.4
Schwartz, C.E.5
Stevenson, R.E.6
-
51
-
-
77952387782
-
Dicer in Schwann cells is required for myelination and axonal integrity
-
Pereira JA, Baumann R, Norrmen C, Somandin C, Miehe M, Jacob C, et al. Dicer in Schwann cells is required for myelination and axonal integrity. J Neurosci 2010; 30: 6763-75.
-
(2010)
J Neurosci
, vol.30
, pp. 6763-6775
-
-
Pereira, J.A.1
Baumann, R.2
Norrmen, C.3
Somandin, C.4
Miehe, M.5
Jacob, C.6
-
52
-
-
65249163411
-
Integrin-linked kinase is required for radial sorting of axons and Schwann cell remyelination in the peripheral nervous system
-
Pereira JA, Benninger Y, Baumann R, Goncalves AF, Ozcelik M, Thurnherr T, et al. Integrin-linked kinase is required for radial sorting of axons and Schwann cell remyelination in the peripheral nervous system. J Cell Biol 2009; 185: 147-61.
-
(2009)
J Cell Biol
, vol.185
, pp. 147-161
-
-
Pereira, J.A.1
Benninger, Y.2
Baumann, R.3
Goncalves, A.F.4
Ozcelik, M.5
Thurnherr, T.6
-
53
-
-
84856430034
-
Molecular mechanisms regulating myelination in the peripheral nervous system
-
Pereira JA, Lebrun-Julien F, Suter U. Molecular mechanisms regulating myelination in the peripheral nervous system. Trends Neurosci 2012; 35: 123-34.
-
(2012)
Trends Neurosci
, vol.35
, pp. 123-134
-
-
Pereira, J.A.1
Lebrun-Julien, F.2
Suter, U.3
-
55
-
-
33748994545
-
Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking
-
Ridley AJ. Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking. Trends Cell Biol 2006; 16: 522-9.
-
(2006)
Trends Cell Biol
, vol.16
, pp. 522-529
-
-
Ridley, A.J.1
-
56
-
-
77950620209
-
Mistargeting of sh3tc2 away from the recycling endosome causes charcot-marie-tooth disease type 4c
-
Roberts RC, Peden AA, Buss F, Bright NA, Latouche M, Reilly MM, et al. Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. Hum Mol Genet 2010; 19: 1009-18.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1009-1018
-
-
Roberts, R.C.1
Peden, A.A.2
Buss, F.3
Bright, N.A.4
Latouche, M.5
Reilly, M.M.6
-
57
-
-
42449113004
-
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice
-
Robinson FL, Niesman IR, Beiswenger KK, Dixon JE. Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. Proc Natl Acad Sci USA 2008; 105: 4916-21.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 4916-4921
-
-
Robinson, F.L.1
Niesman, I.R.2
Beiswenger, K.K.3
Dixon, J.E.4
-
58
-
-
0031255352
-
Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment
-
Rogers DC, Fisher EM, Brown SD, Peters J, Hunter AJ, Martin JE. Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment. Mamm Genome 1997; 8: 711-13.
-
(1997)
Mamm Genome
, vol.8
, pp. 711-713
-
-
Rogers, D.C.1
Fisher, E.M.2
Brown, S.D.3
Peters, J.4
Hunter, A.J.5
Martin, J.E.6
-
59
-
-
44149108218
-
Switching myelination on and off
-
Salzer JL. Switching myelination on and off. J Cell Biol 2008; 181: 575-7.
-
(2008)
J Cell Biol
, vol.181
, pp. 575-577
-
-
Salzer, J.L.1
-
60
-
-
0032583205
-
Matrix-dependent Tiam1/Rac signaling in epithelial cells promotes either cell-cell adhesion or cell migration and is regulated by phosphatidylinositol 3-kinase
-
Sander EE, van Delft S, ten Klooster JP, Reid T, van der Kammen RA, Michiels F, et al. Matrix-dependent Tiam1/Rac signaling in epithelial cells promotes either cell-cell adhesion or cell migration and is regulated by phosphatidylinositol 3-kinase. J Cell Biol 1998; 143: 1385-98.
-
(1998)
J Cell Biol
, vol.143
, pp. 1385-1398
-
-
Sander, E.E.1
Van Delft, S.2
Ten Klooster, J.P.3
Reid, T.4
Van Der Kammen, R.A.5
Michiels, F.6
-
61
-
-
4444270899
-
The raft-associated protein MAL is required for maintenance of proper axon-glia interactions in the central nervous system
-
Schaeren-Wiemers N, Bonnet A, Erb M, Erne B, Bartsch U, Kern F, et al. The raft-associated protein MAL is required for maintenance of proper axon-glia interactions in the central nervous system. J Cell Biol 2004; 166: 731-42.
-
(2004)
J Cell Biol
, vol.166
, pp. 731-742
-
-
Schaeren-Wiemers, N.1
Bonnet, A.2
Erb, M.3
Erne, B.4
Bartsch, U.5
Kern, F.6
-
62
-
-
0037322882
-
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
-
Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schoneborn S, et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet 2003; 12: 349-56.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 349-356
-
-
Senderek, J.1
Bergmann, C.2
Weber, S.3
Ketelsen, U.P.4
Schorle, H.5
Rudnik-Schoneborn, S.6
-
63
-
-
79951831654
-
Constitutive activated cdc42-associated kinase (ack) phosphor-ylation at arrested endocytic clathrin-coated pits of cells that lack dynamin
-
Shen H, Ferguson SM, Dephoure N, Park R, Yang Y, Volpicelli-Daley L, et al. Constitutive activated Cdc42-associated kinase (Ack) phosphor-ylation at arrested endocytic clathrin-coated pits of cells that lack dynamin. Mol Biol Cell 2011; 22: 493-502.
-
(2011)
Mol Biol Cell
, vol.22
, pp. 493-502
-
-
Shen, H.1
Ferguson, S.M.2
Dephoure, N.3
Park, R.4
Yang, Y.5
Volpicelli-Daley, L.6
-
64
-
-
84882866259
-
Hereditary motor and sensory neuropathies: An overview of clinical, genetic, electrophy-siologic, and pathologic features
-
Dyck PJ, Thomas PK, editors Philadelphia: Elsevier Saunders
-
Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophy-siologic, and pathologic features. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy. Philadelphia: Elsevier Saunders; 2005. p. 1623-58.
-
(2005)
Peripheral Neuropathy
, pp. 1623-1658
-
-
Shy, M.E.1
Lupski, J.R.2
Chance, P.F.3
Klein, C.J.4
Dyck, P.J.5
-
65
-
-
84860643209
-
Dynamin 2 mutations in charcot-marie-tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination
-
Sidiropoulos PN, Miehe M, Bock T, Tinelli E, Oertli CI, Kuner R, et al. Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination. Brain 2012; 135: 1395-411.
-
(2012)
Brain
, vol.135
, pp. 1395-1411
-
-
Sidiropoulos, P.N.1
Miehe, M.2
Bock, T.3
Tinelli, E.4
Oertli, C.I.5
Kuner, R.6
-
66
-
-
0016266593
-
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
-
Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974; 6: 98-118.
-
(1974)
Clin Genet
, vol.6
, pp. 98-118
-
-
Skre, H.1
-
67
-
-
84865330547
-
LITAF (simple) regulates wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: Implications for charcot-marie-tooth disease
-
Somandin C, Gerber D, Pereira JA, Horn M, Suter U. LITAF (SIMPLE) regulates Wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: Implications for Charcot-Marie-Tooth disease. Glia 2012; 60: 1518-28.
-
(2012)
Glia
, vol.60
, pp. 1518-1528
-
-
Somandin, C.1
Gerber, D.2
Pereira, J.A.3
Horn, M.4
Suter, U.5
-
68
-
-
34347213793
-
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
-
Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, et al. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet 2007; 81: 158-64.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 158-164
-
-
Stendel, C.1
Roos, A.2
Deconinck, T.3
Pereira, J.4
Castagner, F.5
Niemann, A.6
-
69
-
-
77957026995
-
SH3TC2 a protein mutant in charcot-marie-tooth neuropathy links peripheral nerve myelination to endosomal recycling
-
Stendel C, Roos A, Kleine H, Arnaud E, Ozcelik M, Sidiropoulos PN, et al. SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. Brain 2010; 133: 2462-74.
-
(2010)
Brain
, vol.133
, pp. 2462-2474
-
-
Stendel, C.1
Roos, A.2
Kleine, H.3
Arnaud, E.4
Ozcelik, M.5
Sidiropoulos, P.N.6
-
70
-
-
39749130486
-
Phosphoinositides and Charcot-Marie-tooth disease: New keys to old questions
-
Suter U. Phosphoinositides and Charcot-Marie-tooth disease: new keys to old questions. Cell Mol Life Sci 2007; 64: 3261-5.
-
(2007)
Cell Mol Life Sci
, vol.64
, pp. 3261-3265
-
-
Suter, U.1
-
71
-
-
0033554318
-
Transgenic mouse models of CMT1A and HNPP
-
Suter U, Nave KA. Transgenic mouse models of CMT1A and HNPP. Ann N Y Acad Sci 1999; 883: 247-53.
-
(1999)
Ann N y Acad Sci
, vol.883
, pp. 247-253
-
-
Suter, U.1
Nave, K.A.2
-
72
-
-
0141833983
-
Disease mechanisms in inherited neuropathies
-
Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 2003; 4: 714-26.
-
(2003)
Nat Rev Neurosci
, vol.4
, pp. 714-726
-
-
Suter, U.1
Scherer, S.S.2
-
73
-
-
0036267227
-
Periaxin mutations cause a broad spectrum of demyelinating neuropathies
-
Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, et al. Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol 2002; 51: 709-15.
-
(2002)
Ann Neurol
, vol.51
, pp. 709-715
-
-
TakashiHernán, M.A.1
Boerkoel, C.F.2
De Jonghe, P.3
Ceuterick, C.4
Martin, J.J.5
Voit, T.6
-
75
-
-
36248934715
-
Mtmr13/Sbf2-deficient mice: An animal model for CMT4B2
-
Tersar K, Boentert M, Berger P, Bonneick S, Wessig C, Toyka KV, et al. Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. Hum Mol Genet 2007; 16: 2991-3001.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2991-3001
-
-
Tersar, K.1
Boentert, M.2
Berger, P.3
Bonneick, S.4
Wessig, C.5
Toyka, K.V.6
-
76
-
-
33749532141
-
Cdc42 and Rac1 signaling are both required for and act syner-gistically in the correct formation of myelin sheaths in the CNS
-
Thurnherr T, Benninger Y, Wu X, Chrostek A, Krause SM, Nave KA, et al. Cdc42 and Rac1 signaling are both required for and act syner-gistically in the correct formation of myelin sheaths in the CNS. J Neurosci 2006; 26: 10110-19.
-
(2006)
J Neurosci
, vol.26
, pp. 10110-10119
-
-
Thurnherr, T.1
Benninger, Y.2
Wu, X.3
Chrostek, A.4
Krause, S.M.5
Nave, K.A.6
-
77
-
-
0033520308
-
Association of frabin with the actin cytoskeleton is essential for microspike formation through activation of Cdc42 small G protein
-
Umikawa M, Obaishi H, Nakanishi H, Satoh-Horikawa K, Takahashi K, Hotta I, et al. Association of frabin with the actin cytoskeleton is essential for microspike formation through activation of Cdc42 small G protein. J Biol Chem 1999; 274: 25197-200.
-
(1999)
J Biol Chem
, vol.274
, pp. 25197-25200
-
-
Umikawa, M.1
Obaishi, H.2
Nakanishi, H.3
Satoh-Horikawa, K.4
Takahashi, K.5
Hotta, I.6
-
78
-
-
0142059625
-
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10
-
Verhoeven K, De Jonghe P, Van de Putte T, Nelis E, Zwijsen A, Verpoorten N, et al. Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. Am J Hum Genet 2003; 73: 926-32.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 926-932
-
-
Verhoeven, K.1
De Jonghe, P.2
Van De Putte, T.3
Nelis, E.4
Zwijsen, A.5
Verpoorten, N.6
-
79
-
-
33644751815
-
Cdc42 controls progenitor cell differentiation and beta-catenin turnover in skin
-
Wu X, Quondamatteo F, Lefever T, Czuchra A, Meyer H, Chrostek A, et al. Cdc42 controls progenitor cell differentiation and beta-catenin turnover in skin. Genes Dev 2006; 20: 571-85.
-
(2006)
Genes Dev
, vol.20
, pp. 571-585
-
-
Wu, X.1
Quondamatteo, F.2
Lefever, T.3
Czuchra, A.4
Meyer, H.5
Chrostek, A.6
-
80
-
-
0035907377
-
The Cdc42 target ACK2 directly interacts with clathrin and influences clathrin assembly
-
Yang W, Lo CG, Dispenza T, Cerione RA. The Cdc42 target ACK2 directly interacts with clathrin and influences clathrin assembly. J Biol Chem 2001; 276: 17468-73.
-
(2001)
J Biol Chem
, vol.276
, pp. 17468-17473
-
-
Yang, W.1
Lo, C.G.2
Dispenza, T.3
Cerione, R.A.4
-
81
-
-
0029666023
-
Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations
-
Zielasek J, Martini R, Toyka KV. Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations. Muscle Nerve 1996; 19: 946-52.
-
(1996)
Muscle Nerve
, vol.19
, pp. 946-952
-
-
Zielasek, J.1
Martini, R.2
Toyka, K.V.3
|